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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: pernice wm. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
Unbiased single-cell morphology with self-supervised vision transformers.
Doron M, Moutakanni T, Chen ZS, Moshkov N, Caron M, Touvron H, Bojanowski P, Pernice WM, Caicedo JC. Doron M, et al. Among authors: pernice wm. bioRxiv [Preprint]. 2023 Jun 18:2023.06.16.545359. doi: 10.1101/2023.06.16.545359. bioRxiv. 2023. PMID: 37398158 Free PMC article. Preprint.